Jiang Hai Hua, Lu Feng, Tan Shu Guang, He Sai Qi
Department of Gastrointestinal Surgery, Hengyang Central Hospital, Hengyang, Hunan 421000, China.
J Med Cases. 2022 Jun;13(6):302-306. doi: 10.14740/jmc3944. Epub 2022 Jun 11.
Peutz-Jeghers syndrome (PJS) is a relatively rare autosomal dominant genetic disease, often manifested as mucous membranes, skin pigmented spots and multiple polyps in the gastrointestinal tract. It can be followed by a variety of serious complications such as bleeding, obstruction, intussusception, and malignant transformation. We introduce the case of a 26-year-old male patient who was diagnosed with multiple polyps in the jejunum with intussusception caused by PJS. He was discharged after emergency surgery reduction and partial resection of the small intestine. Gastrointestinal polyps, hemorrhage, intussusception, intestinal obstruction, and increased risk of cancer occur in patients with PJS. Currently, polypectomy under endoscopic techniques, reexamination and follow-up are the main treatment options; surgical treatment is used for bleeding, intussusception, and cancer. Therefore, it is very necessary for us to have a correct understanding of it, actively prevent it, treat it and follow these patients closely.
黑斑息肉综合征（PJS）是一种相对罕见的常染色体显性遗传病，常表现为黏膜、皮肤色素沉着斑以及胃肠道多发息肉。它可继发多种严重并发症，如出血、梗阻、肠套叠和恶变。我们介绍一例26岁男性患者，他被诊断为因黑斑息肉综合征导致空肠多发息肉并伴有肠套叠。经急诊手术复位及部分小肠切除术后出院。黑斑息肉综合征患者会出现胃肠道息肉、出血、肠套叠、肠梗阻以及癌症风险增加等情况。目前，内镜技术下息肉切除术、复查及随访是主要治疗选择；手术治疗用于出血、肠套叠和癌症情况。因此，我们正确认识它、积极预防、治疗并密切随访这些患者非常必要。
